Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.810 | GeneticVariation | UNIPROT | Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. | 25818041 | 2015 |
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0.810 | GeneticVariation | UNIPROT | Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. | 25736335 | 2015 |
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0.810 | GeneticVariation | BEFREE | The diagnosis of MTHFR deficiency was confirmed based on extremely reduced fibroblast MTHFR activity (0.3 nmol CHO/mg prot/hr) as well as mutation analysis that revealed two variants in the MTHFR gene, a splice site mutation p (IVS5-1G>A), as well as a missense mutation (c.155 G>A; p. Arg52Gln). | 25079578 | 2014 |
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|
0.810 | GeneticVariation | UNIPROT | Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency. | 20236116 | 2010 |
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|
0.810 | GeneticVariation | UNIPROT | Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. | 10679944 | 2000 |
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|
0.810 | GeneticVariation | UNIPROT | Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency. | 9781030 | 1998 |
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0.810 | GeneticVariation | UNIPROT | Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR. | 8940272 | 1996 |
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0.810 | GeneticVariation | UNIPROT | Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. | 7726158 | 1995 |
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|
T | 0.810 | CausalMutation | CLINVAR |